Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: A case report

Piero Barboni, Giacomo Savini, Giuseppe Plazzi, Marzio Bellan, Maria Lucia Valentino, Maurizio Zanini, Pasquale Montagna, Michio Hirano, Valerio Carelli

Research output: Contribution to journalArticlepeer-review


Purpose: To describe the ocular features of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) due to a homozygous G1443A mutation in the thymidine-phosphorylase gene. Methods: A case report with extensive ophthalmological investigation over a 9-year period, until death at age 38 years. Measures used included standard ophthalmological examination, visual field examination and optical coherence tomography (OCT). Results: Ptosis and external op hthalmoplegia progressively worsened during the follow-up, as did the neurological and general status. Corneal and optic disc alterations were also observed at the last visit. Glaucomatous changes of the optic disc were confirmed by the visual field examination and OCT. Conclusion: In addition to previously descri bed alterations such as ptosis and external ophthalmoplegia, MNGIE may be associated with glaucomatous-like optic neuropathy.

Original languageEnglish
Pages (from-to)878-880
Number of pages3
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Issue number10
Publication statusPublished - Oct 2004

ASJC Scopus subject areas

  • Ophthalmology


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